Canonical Allele Identifier: CA2804592538

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209854_68209859del , CM000677.2:g.68209854_68209859del	GRCh38
NC_000015.9:g.68502192_68502197del , CM000677.1:g.68502192_68502197del	GRCh37
NC_000015.8:g.66289246_66289251del	NCBI36
NG_008764.2:g.52353_52358del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.543-100_543-95del MANE Select	ENSP00000249806.5:n.543-100_543-95del
ENST00000562767.2:c.84-12231_84-12226del	ENSP00000456336.1:n.84-12231_84-12226del
ENST00000563917.2:n.385-100_385-95del
ENST00000565471.6:c.84-100_84-95del	ENSP00000457384.1:n.84-100_84-95del
ENST00000635747.1:c.*446-100_*446-95del	ENSP00000490627.1:n.*446-100_*446-95del
ENST00000636212.1:c.*213-100_*213-95del	ENSP00000489851.1:n.*213-100_*213-95del
ENST00000636314.1:c.239-100_239-95del	ENSP00000490295.1:n.239-100_239-95del
ENST00000636674.1:n.1645-100_1645-95del
ENST00000636964.1:n.2071-100_2071-95del
ENST00000637054.1:c.198+8677_198+8682del	ENSP00000490807.1:n.198+8677_198+8682del
ENST00000637223.1:c.*257-100_*257-95del	ENSP00000490010.1:n.*257-100_*257-95del
ENST00000637329.1:c.512-100_512-95del
ENST00000637450.1:c.*197-100_*197-95del	ENSP00000490204.1:n.*197-100_*197-95del
ENST00000637494.1:c.255-100_255-95del	ENSP00000490057.1:n.255-100_255-95del
ENST00000637667.1:c.444-100_444-95del	ENSP00000489843.1:n.444-100_444-95del
ENST00000637823.1:c.368-100_368-95del
ENST00000637888.1:c.198+8677_198+8682del	ENSP00000490546.1:n.198+8677_198+8682del
ENST00000638076.1:c.*146-100_*146-95del	ENSP00000490373.1:n.*146-100_*146-95del
ENST00000638144.1:n.186-100_186-95del
ENST00000646164.1:c.38+8677_38+8682del
ENST00000249806.9:c.543-100_543-95del	ENSP00000249806.5:n.543-100_543-95del
ENST00000538696.5:c.639-100_639-95del	ENSP00000445770.1:n.639-100_639-95del
ENST00000562767.1:c.84-12231_84-12226del	ENSP00000456336.1:n.84-12231_84-12226del
ENST00000563917.1:n.443-100_443-95del
ENST00000564752.1:c.569-100_569-95del	ENSP00000457822.1:n.569-100_569-95del
ENST00000565471.5:c.84-100_84-95del	ENSP00000457384.1:n.84-100_84-95del
ENST00000566347.5:c.354-100_354-95del	ENSP00000457783.1:n.354-100_354-95del
ENST00000567060.5:c.298-139_298-134del	ENSP00000454818.1:n.298-139_298-134del
NM_017882.2:c.543-100_543-95del	NP_060352.1:n.543-100_543-95del
XR_931861.1:n.765-100_765-95del
NM_017882.3:c.543-100_543-95del MANE Select	NP_060352.1:n.543-100_543-95del